NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys)
|
rs727503057
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.347-2A>G
|
rs1555405056
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr)
|
rs363804
|
0.00001
|
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys)
|
rs794728280
|
0.00001
|
NM_000138.4(FBN1):c.3465_3466delinsAAG (p.Asp1155fs)
|
rs1555398527
|
|
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile)
|
rs1555396205
|
|
NM_000138.4(FBN1):c.7930delGins34 (p.?)
|
|
|
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del)
|
rs672601352
|
|
NM_000138.5(FBN1):c.1167C>A (p.Cys389Ter)
|
rs746201757
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1391del (p.Arg464fs)
|
rs1555400385
|
|
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe)
|
rs794728166
|
|
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys)
|
rs137854485
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1463G>T (p.Cys488Phe)
|
rs1555400372
|
|
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1481G>C (p.Cys494Ser)
|
rs1057518881
|
|
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)
|
rs587782944
|
|
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg)
|
rs1555400279
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.1617del (p.Ile540fs)
|
rs1555400066
|
|
NM_000138.5(FBN1):c.1622G>T (p.Cys541Phe)
|
rs1555400064
|
|
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)
|
rs730880099
|
|
NM_000138.5(FBN1):c.1636T>C (p.Cys546Arg)
|
rs1555400062
|
|
NM_000138.5(FBN1):c.164+1G>T
|
rs794728213
|
|
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr)
|
rs794728172
|
|
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr)
|
rs1057521102
|
|
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser)
|
rs1064794283
|
|
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1715A>T (p.Asp572Val)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr)
|
rs1555399974
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.176G>T (p.Cys59Phe)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.1775G>A (p.Gly592Asp)
|
rs1555399959
|
|
NM_000138.5(FBN1):c.1793G>A (p.Cys598Tyr)
|
rs1555399955
|
|
NM_000138.5(FBN1):c.1823del (p.Gly608fs)
|
rs1555399949
|
|
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg)
|
rs1555399944
|
|
NM_000138.5(FBN1):c.1838-1G>A
|
rs1555399840
|
|
NM_000138.5(FBN1):c.1843_1845del (p.Asn615del)
|
rs1555399837
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly)
|
rs1060501017
|
|
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys)
|
rs25403
|
|
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr)
|
rs1555399836
|
|
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys)
|
rs1555399816
|
|
NM_000138.5(FBN1):c.1916G>A (p.Cys639Tyr)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1960+2T>C
|
rs1555399802
|
|
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs)
|
rs1555399775
|
|
NM_000138.5(FBN1):c.197A>G (p.Tyr66Cys)
|
rs774371494
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.1A>G (p.Met1Val)
|
rs730880097
|
|
NM_000138.5(FBN1):c.201_203dup (p.Cys68dup)
|
rs1555405664
|
|
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg)
|
rs1555399764
|
|
NM_000138.5(FBN1):c.2051G>C (p.Cys684Ser)
|
rs1555399763
|
|
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr)
|
rs1555399761
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg)
|
rs1555405658
|
|
NM_000138.5(FBN1):c.2167G>T (p.Asp723Tyr)
|
rs1555399477
|
|
NM_000138.5(FBN1):c.2176del (p.Glu726fs)
|
rs1555399385
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys)
|
rs137854479
|
|
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly)
|
rs1555399361
|
|
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs)
|
rs1555399281
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2368T>A (p.Cys790Ser)
|
rs1555399270
|
|
NM_000138.5(FBN1):c.238T>G (p.Cys80Gly)
|
rs111764111
|
|
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr)
|
rs397515767
|
|
NM_000138.5(FBN1):c.2420-1G>T
|
rs1555399214
|
|
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr)
|
rs1555399210
|
|
NM_000138.5(FBN1):c.2467_2468insG (p.Asn823fs)
|
rs1555399204
|
|
NM_000138.5(FBN1):c.2474del (p.Pro825fs)
|
rs1555399202
|
|
NM_000138.5(FBN1):c.248-3C>G
|
rs1555405537
|
|
NM_000138.5(FBN1):c.2502_2513del (p.Glu835_Leu838del)
|
rs1555399195
|
|
NM_000138.5(FBN1):c.2529del (p.Ile844fs)
|
rs1555399193
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)
|
rs1555399162
|
|
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr)
|
rs794728193
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.265T>C (p.Cys89Arg)
|
rs1555405533
|
|
NM_000138.5(FBN1):c.2669G>A (p.Cys890Tyr)
|
rs1555399144
|
|
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2678-2A>G
|
rs1555399101
|
|
NM_000138.5(FBN1):c.2695G>C (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.2698_2699insGG (p.Tyr900fs)
|
rs1555399093
|
|
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)
|
rs1060501021
|
|
NM_000138.5(FBN1):c.2738A>G (p.Glu913Gly)
|
rs1555398995
|
|
NM_000138.5(FBN1):c.2740T>A (p.Cys914Ser)
|
rs1555398994
|
|
NM_000138.5(FBN1):c.2764_2780del (p.Cys921_Lys922insTer)
|
rs1555398988
|
|
NM_000138.5(FBN1):c.2808_2810del (p.Gln936_Cys937delinsHis)
|
rs1555398981
|
|
NM_000138.5(FBN1):c.2849G>A (p.Cys950Tyr)
|
rs1555398974
|
|
NM_000138.5(FBN1):c.2858del (p.Ile953fs)
|
rs1555398836
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2884_2890del (p.Tyr962fs)
|
rs1555398833
|
|
NM_000138.5(FBN1):c.2913del (p.Ile971fs)
|
rs1555398826
|
|
NM_000138.5(FBN1):c.2942G>A (p.Cys981Tyr)
|
rs727505110
|
|
NM_000138.5(FBN1):c.2948_2970del (p.Cys982_Ser983insTer)
|
rs1555398811
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.2988T>A (p.Cys996Ter)
|
rs1555398803
|
|
NM_000138.5(FBN1):c.2T>C (p.Met1Thr)
|
rs886041536
|
|
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg)
|
rs1555398793
|
|
NM_000138.5(FBN1):c.305G>C (p.Cys102Ser)
|
rs794728292
|
|
NM_000138.5(FBN1):c.3144del (p.Ile1048fs)
|
rs1555398672
|
|
NM_000138.5(FBN1):c.3149G>T (p.Ser1050Ile)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3157T>A (p.Cys1053Ser)
|
rs1555398667
|
|
NM_000138.5(FBN1):c.3165T>G (p.Cys1055Trp)
|
rs1060501040
|
|
NM_000138.5(FBN1):c.3203G>A (p.Cys1068Tyr)
|
rs1555398659
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.3214G>C (p.Asp1072His)
|
rs778867355
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3268C>T (p.Pro1090Ser)
|
rs1555398633
|
|
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr)
|
rs1555398627
|
|
NM_000138.5(FBN1):c.3299G>C (p.Gly1100Ala)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3299G>T (p.Gly1100Val)
|
rs112547596
|
|
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys)
|
rs1555398625
|
|
NM_000138.5(FBN1):c.3320_3323dup (p.Met1108fs)
|
rs1555398622
|
|
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly)
|
rs140597
|
|
NM_000138.5(FBN1):c.3346G>A (p.Glu1116Lys)
|
rs1555398582
|
|
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs)
|
rs1555398566
|
|
NM_000138.5(FBN1):c.3412T>C (p.Cys1138Arg)
|
rs1131691806
|
|
NM_000138.5(FBN1):c.3419G>T (p.Cys1140Phe)
|
rs1060501075
|
|
NM_000138.5(FBN1):c.3444del (p.Asn1149fs)
|
rs1555398551
|
|
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg)
|
rs794728205
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr)
|
rs1555398521
|
|
NM_000138.5(FBN1):c.3533A>G (p.Tyr1178Cys)
|
rs1555398515
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3602G>A (p.Cys1201Tyr)
|
rs1555398413
|
|
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe)
|
rs1555398406
|
|
NM_000138.5(FBN1):c.3632_3634del (p.Phe1211del)
|
rs1555398404
|
|
NM_000138.5(FBN1):c.3641A>G (p.Asn1214Ser)
|
rs1555398401
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)
|
rs1555398394
|
|
NM_000138.5(FBN1):c.3706T>C (p.Cys1236Arg)
|
rs1555398380
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr)
|
rs137854471
|
|
NM_000138.5(FBN1):c.3759del (p.Gln1253fs)
|
rs1555398287
|
|
NM_000138.5(FBN1):c.3783del (p.Glu1260_Tyr1261insTer)
|
rs1555398282
|
|
NM_000138.5(FBN1):c.3839A>T (p.Asp1280Val)
|
rs1555398179
|
|
NM_000138.5(FBN1):c.3847G>A (p.Glu1283Lys)
|
rs1555398176
|
|
NM_000138.5(FBN1):c.390del (p.Ser130fs)
|
rs1555405045
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.3932A>G (p.Tyr1311Cys)
|
rs1555398148
|
|
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3959G>T (p.Cys1320Phe)
|
rs113393517
|
|
NM_000138.5(FBN1):c.3963A>G (p.Thr1321=)
|
rs140648
|
|
NM_000138.5(FBN1):c.3965A>G (p.Asp1322Gly)
|
rs1555397744
|
|
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr)
|
rs1555397738
|
|
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg)
|
rs1555405044
|
|
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr)
|
rs397515798
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4032_4033del (p.Ser1345fs)
|
rs1555397723
|
|
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe)
|
rs1555397718
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.406T>A (p.Cys136Ser)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>C (p.Cys136Arg)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly)
|
rs1555405041
|
|
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr)
|
rs1555397704
|
|
NM_000138.5(FBN1):c.4087+5G>A
|
rs1555397692
|
|
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.433T>G (p.Cys145Gly)
|
rs1555405031
|
|
NM_000138.5(FBN1):c.4346_4349dup (p.Cys1450Ter)
|
rs1555397420
|
|
NM_000138.5(FBN1):c.4348T>A (p.Cys1450Ser)
|
rs1555397421
|
|
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg)
|
rs1555397403
|
|
NM_000138.5(FBN1):c.4454G>A (p.Cys1485Tyr)
|
rs111978932
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
NM_000138.5(FBN1):c.4460-1G>C
|
rs113082854
|
|
NM_000138.5(FBN1):c.4474del (p.Leu1492fs)
|
rs1555397214
|
|
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr)
|
rs397515810
|
|
NM_000138.5(FBN1):c.4531T>G (p.Cys1511Gly)
|
rs397515811
|
|
NM_000138.5(FBN1):c.4583-1G>A
|
rs1555397176
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4602C>G (p.Cys1534Trp)
|
rs1555397174
|
|
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe)
|
rs1555397024
|
|
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr)
|
rs1555404810
|
|
NM_000138.5(FBN1):c.4816+1G>T
|
rs1555397014
|
|
NM_000138.5(FBN1):c.488del (p.Pro163fs)
|
rs1555404806
|
|
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr)
|
rs397515817
|
|
NM_000138.5(FBN1):c.5020T>C (p.Cys1674Arg)
|
rs1555396844
|
|
NM_000138.5(FBN1):c.504C>G (p.Cys168Trp)
|
rs200295020
|
|
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter)
|
rs1555396838
|
|
NM_000138.5(FBN1):c.5065+1G>C
|
rs1296209846
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr)
|
rs1555396769
|
|
NM_000138.5(FBN1):c.5225-2A>C
|
rs1555396639
|
|
NM_000138.5(FBN1):c.5296+1G>C
|
rs1555396630
|
|
NM_000138.5(FBN1):c.531dup (p.Glu178Ter)
|
rs1555404800
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5369G>C (p.Arg1790Pro)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr)
|
rs886038848
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5435G>A (p.Cys1812Tyr)
|
rs1555396213
|
|
NM_000138.5(FBN1):c.5499dup (p.Asp1834Ter)
|
rs1555396199
|
|
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg)
|
rs1555396198
|
|
NM_000138.5(FBN1):c.5504G>T (p.Cys1835Phe)
|
rs111929350
|
|
NM_000138.5(FBN1):c.5539T>C (p.Cys1847Arg)
|
rs1555396186
|
|
NM_000138.5(FBN1):c.5545+1G>A
|
rs1260109901
|
|
NM_000138.5(FBN1):c.554_556del (p.Pro185_Cys186delinsArg)
|
rs1555401701
|
|
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg)
|
rs1555395984
|
|
NM_000138.5(FBN1):c.5672-1G>A
|
rs1555395849
|
|
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg)
|
rs878853686
|
|
NM_000138.5(FBN1):c.577del (p.Gln193fs)
|
rs1555401697
|
|
NM_000138.5(FBN1):c.5788+1G>T
|
rs1555395819
|
|
NM_000138.5(FBN1):c.5788G>T (p.Asp1930Tyr)
|
rs1555395820
|
|
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser)
|
rs1555395767
|
|
NM_000138.5(FBN1):c.5839T>C (p.Cys1947Arg)
|
rs1131691938
|
|
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs)
|
rs1555395757
|
|
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter)
|
rs397515829
|
|
NM_000138.5(FBN1):c.590del (p.Gly197fs)
|
rs1555401695
|
|
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly)
|
rs1555395745
|
|
NM_000138.5(FBN1):c.5912G>A (p.Cys1971Tyr)
|
rs111239111
|
|
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr)
|
rs1555395663
|
|
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg)
|
rs1555395659
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.6019C>T (p.Gln2007Ter)
|
rs1555395641
|
|
NM_000138.5(FBN1):c.6037G>C (p.Asp2013His)
|
rs1555395638
|
|
NM_000138.5(FBN1):c.6087C>G (p.Cys2029Trp)
|
rs1555395475
|
|
NM_000138.5(FBN1):c.6164-1G>C
|
rs1060501048
|
|
NM_000138.5(FBN1):c.6181T>C (p.Cys2061Arg)
|
rs1555395267
|
|
NM_000138.5(FBN1):c.619dup (p.Thr207fs)
|
rs1555401689
|
|
NM_000138.5(FBN1):c.6236C>G (p.Ser2079Cys)
|
rs1555395263
|
|
NM_000138.5(FBN1):c.6251G>A (p.Cys2084Tyr)
|
rs794728245
|
|
NM_000138.5(FBN1):c.6254G>C (p.Cys2085Ser)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.629G>A (p.Cys210Tyr)
|
rs1085307468
|
|
NM_000138.5(FBN1):c.6313+2T>C
|
rs1555395257
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg)
|
rs363815
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6414del (p.Lys2138fs)
|
rs1555395205
|
|
NM_000138.5(FBN1):c.6424T>A (p.Cys2142Ser)
|
rs1555395203
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+1G>A
|
rs1555395188
|
|
NM_000138.5(FBN1):c.6524del (p.Pro2175fs)
|
rs1555395013
|
|
NM_000138.5(FBN1):c.6576C>G (p.Cys2192Trp)
|
rs369058466
|
|
NM_000138.5(FBN1):c.6611G>T (p.Cys2204Phe)
|
rs886039158
|
|
NM_000138.5(FBN1):c.6628T>A (p.Cys2210Ser)
|
rs794728253
|
|
NM_000138.5(FBN1):c.6645del (p.Leu2216fs)
|
rs1555394928
|
|
NM_000138.5(FBN1):c.6656dup (p.Arg2220fs)
|
rs1555394925
|
|
NM_000138.5(FBN1):c.6688T>C (p.Cys2230Arg)
|
rs1555394906
|
|
NM_000138.5(FBN1):c.670T>C (p.Cys224Arg)
|
rs1555401676
|
|
NM_000138.5(FBN1):c.6740-2del
|
rs1555394783
|
|
NM_000138.5(FBN1):c.6770_6771dup (p.Cys2258fs)
|
rs1555394779
|
|
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg)
|
rs1057520617
|
|
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs)
|
rs1555394777
|
|
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs)
|
rs1555394776
|
|
NM_000138.5(FBN1):c.6790del (p.Glu2264fs)
|
rs1555394775
|
|
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6856G>T (p.Gly2286Ter)
|
rs1555394756
|
|
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
|
rs1555394647
|
|
NM_000138.5(FBN1):c.6883T>G (p.Cys2295Gly)
|
rs1555394644
|
|
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr)
|
rs886038949
|
|
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs)
|
rs1555394630
|
|
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs)
|
rs1555394631
|
|
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe)
|
rs1555394629
|
|
NM_000138.5(FBN1):c.6949G>T (p.Glu2317Ter)
|
rs1555394628
|
|
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg)
|
rs111588631
|
|
NM_000138.5(FBN1):c.6953G>A (p.Cys2318Tyr)
|
rs1555394626
|
|
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter)
|
rs534811966
|
|
NM_000138.5(FBN1):c.7014C>G (p.Tyr2338Ter)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.7022_7023del (p.Thr2341fs)
|
rs1555394579
|
|
NM_000138.5(FBN1):c.7071del (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7084G>T (p.Glu2362Ter)
|
rs1555394570
|
|
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr)
|
rs397515845
|
|
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter)
|
rs1555394567
|
|
NM_000138.5(FBN1):c.7139del (p.Phe2380fs)
|
rs1555394561
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7191dup (p.Thr2398fs)
|
rs1555394559
|
|
NM_000138.5(FBN1):c.7204+1G>T
|
rs1555394557
|
|
NM_000138.5(FBN1):c.7204+2T>C
|
rs1555394556
|
|
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr)
|
rs1131691479
|
|
NM_000138.5(FBN1):c.7252T>C (p.Cys2418Arg)
|
rs1555394441
|
|
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser)
|
rs1555394435
|
|
NM_000138.5(FBN1):c.7331-1G>C
|
rs1555394412
|
|
NM_000138.5(FBN1):c.733C>T (p.Gln245Ter)
|
rs1555401667
|
|
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs)
|
rs1555394407
|
|
NM_000138.5(FBN1):c.7408T>C (p.Cys2470Arg)
|
rs1555394399
|
|
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr)
|
rs1555394398
|
|
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp)
|
rs1555394397
|
|
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg)
|
rs1555394391
|
|
NM_000138.5(FBN1):c.7465T>G (p.Cys2489Gly)
|
rs1057520728
|
|
NM_000138.5(FBN1):c.7486T>A (p.Cys2496Ser)
|
rs1555394246
|
|
NM_000138.5(FBN1):c.7487G>T (p.Cys2496Phe)
|
rs1555394245
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr)
|
rs1555394238
|
|
NM_000138.5(FBN1):c.7566C>A (p.Cys2522Ter)
|
rs1555394235
|
|
NM_000138.5(FBN1):c.7574del (p.Asn2525fs)
|
rs1555394220
|
|
NM_000138.5(FBN1):c.7577del (p.Asn2526fs)
|
rs1555394218
|
|
NM_000138.5(FBN1):c.7603T>C (p.Cys2535Arg)
|
rs1555394212
|
|
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7608dup (p.Ser2537fs)
|
rs1555394206
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.7643del (p.Phe2548fs)
|
rs1555394197
|
|
NM_000138.5(FBN1):c.7699+1G>A
|
rs1555394189
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7712G>T (p.Cys2571Phe)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.7719del (p.Asn2574fs)
|
rs1555394152
|
|
NM_000138.5(FBN1):c.7742G>A (p.Cys2581Tyr)
|
rs1555394149
|
|
NM_000138.5(FBN1):c.7746G>A (p.Gln2582=)
|
rs1555394148
|
|
NM_000138.5(FBN1):c.7819+1G>A
|
rs112907302
|
|
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys)
|
rs111984349
|
|
NM_000138.5(FBN1):c.7829A>T (p.Glu2610Val)
|
rs1555393889
|
|
NM_000138.5(FBN1):c.7850G>A (p.Cys2617Tyr)
|
rs1555393886
|
|
NM_000138.5(FBN1):c.7864T>A (p.Cys2622Ser)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg)
|
rs1555393882
|
|
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe)
|
rs111856492
|
|
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter)
|
rs1555393866
|
|
NM_000138.5(FBN1):c.7931_7937del (p.Gly2644fs)
|
rs1555393862
|
|
NM_000138.5(FBN1):c.7936T>C (p.Cys2646Arg)
|
rs1555393863
|
|
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly)
|
rs1555393847
|
|
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys)
|
rs112196241
|
|
NM_000138.5(FBN1):c.8015G>A (p.Cys2672Tyr)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8015G>C (p.Cys2672Ser)
|
rs1555393831
|
|
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys)
|
rs794728283
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter)
|
rs1555393657
|
|
NM_000138.5(FBN1):c.8148_8149insA (p.Glu2717fs)
|
rs1555393653
|
|
NM_000138.5(FBN1):c.8226+1G>A
|
rs398122833
|
|
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)
|
rs397515863
|
|
NM_000138.5(FBN1):c.8479del (p.Tyr2827fs)
|
rs1555393525
|
|
NM_000138.5(FBN1):c.8544dup (p.Tyr2849fs)
|
rs794728323
|
|
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter)
|
rs1232880706
|
|
NM_000138.5(FBN1):c.959dup (p.Tyr320Ter)
|
rs1555401005
|
|